Short communication: molecular genetic characterization of ovine alpha(S1)-casein allele H caused by alternative splicing

J Dairy Sci. 2010 Feb;93(2):792-5. doi: 10.3168/jds.2009-2615.

Abstract

Sequencing of ovine CSN1S1*H cDNA showed an absence of exon 8 in comparison with GenBank sequences; the absence was confirmed by protein sequencing. We demonstrated that this allelic aberration is the result of a deletion of 4 nucleotides, the last 3 of exon 8 and the first 1 of intron 8, which are replaced by an insertion of 13 nucleotides in the DNA sequence. The insertion is a precise duplication of a part of the adjacent intronic sequence of CSN1S1*C''. These sequence differences result in an inactivation of the splice donor sequence distal to exon 8, leading to upstream exon skipping during the serial splice reactions of the ovine CSN1S1*H pre-mRNA, and may affect the specific casein expression as well as protein characteristics.

MeSH terms

  • Alleles*
  • Alternative Splicing / genetics*
  • Animals
  • Caseins / genetics*
  • Genetic Variation
  • Molecular Sequence Data
  • Polymerase Chain Reaction / veterinary
  • Sequence Alignment
  • Sheep / genetics*

Substances

  • Caseins

Associated data

  • GENBANK/FJ440847
  • GENBANK/FJ440848